Canonical Allele Identifier: CA2210143231

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169661_16169713delinsGGAGCCCGAAGATCCCGCCACGCAGGGCTGCCTGCGTCTGCTGCCCACCTACT , CM000678.2:g.16169661_16169713delinsGGAGCCCGAAGATCCCGCCACGCAGGGCTGCCTGCGTCTGCTGCCCACCTACT	GRCh38
NC_000016.9:g.16263518_16263570delinsGGAGCCCGAAGATCCCGCCACGCAGGGCTGCCTGCGTCTGCTGCCCACCTACT , CM000678.1:g.16263518_16263570delinsGGAGCCCGAAGATCCCGCCACGCAGGGCTGCCTGCGTCTGCTGCCCACCTACT	GRCh37
NC_000016.8:g.16171019_16171071delinsGGAGCCCGAAGATCCCGCCACGCAGGGCTGCCTGCGTCTGCTGCCCACCTACT	NCBI36
NG_007558.2:g.58759_58811delinsAGTAGGTGGGCAGCAGACGCAGGCAGCCCTGCGTGGCGGGATCTTCGGGCTCC
NG_007558.3:g.58905_58957delinsAGTAGGTGGGCAGCAGACGCAGGCAGCCCTGCGTGGCGGGATCTTCGGGCTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2928_2980delinsAGTAGGTGGGCAGCAGACGCAGGCAGCCCTGCGTGGCGGGATCTTCGGGCTCC	ENSP00000483331.2:p.Ala976=
ENST00000205557.12:c.2928_2980delinsAGTAGGTGGGCAGCAGACGCAGGCAGCCCTGCGTGGCGGGATCTTCGGGCTCC MANE Select	ENSP00000205557.7:p.Ala976=
ENST00000205557.11:c.2928_2980delinsAGTAGGTGGGCAGCAGACGCAGGCAGCCCTGCGTGGCGGGATCTTCGGGCTCC	ENSP00000205557.7:p.Ala976=
ENST00000456970.6:c.2753_2805delinsAGTAGGTGGGCAGCAGACGCAGGCAGCCCTGCGTGGCGGGATCTTCGGGCTCC	ENSP00000405002.2:n.2753_2805delinsAGTAGGTGGGCAGCAGACGCAGGCAG...
ENST00000622290.4:c.*137_*189delinsAGTAGGTGGGCAGCAGACGCAGGCAGCCCTGCGTGGCGGGATCTTCGGGCTCC	ENSP00000483331.1:n.*137_*189delinsAGTAGGTGGGCAGCAGACGCAGGCAG...
NM_001171.5:c.2928_2980delinsAGTAGGTGGGCAGCAGACGCAGGCAGCCCTGCGTGGCGGGATCTTCGGGCTCC	NP_001162.4:p.Ala976=
XM_011522479.1:c.2895_2947delinsAGTAGGTGGGCAGCAGACGCAGGCAGCCCTGCGTGGCGGGATCTTCGGGCTCC	XP_011520781.1:p.Ala965=
XM_011522480.1:c.2586_2638delinsAGTAGGTGGGCAGCAGACGCAGGCAGCCCTGCGTGGCGGGATCTTCGGGCTCC	XP_011520782.1:p.Ala862=
XM_011522481.1:c.2586_2638delinsAGTAGGTGGGCAGCAGACGCAGGCAGCCCTGCGTGGCGGGATCTTCGGGCTCC	XP_011520783.1:p.Ala862=
XR_932836.1:n.3163_3215delinsAGTAGGTGGGCAGCAGACGCAGGCAGCCCTGCGTGGCGGGATCTTCGGGCTCC
XR_932837.1:n.3164_3216delinsAGTAGGTGGGCAGCAGACGCAGGCAGCCCTGCGTGGCGGGATCTTCGGGCTCC
XR_932838.1:n.3164_3216delinsAGTAGGTGGGCAGCAGACGCAGGCAGCCCTGCGTGGCGGGATCTTCGGGCTCC
NM_001351800.1:c.2586_2638delinsAGTAGGTGGGCAGCAGACGCAGGCAGCCCTGCGTGGCGGGATCTTCGGGCTCC	NP_001338729.1:p.Ala862=
NR_147784.1:n.2790_2842delinsAGTAGGTGGGCAGCAGACGCAGGCAGCCCTGCGTGGCGGGATCTTCGGGCTCC
XM_011522479.2:c.2895_2947delinsAGTAGGTGGGCAGCAGACGCAGGCAGCCCTGCGTGGCGGGATCTTCGGGCTCC	XP_011520781.1:p.Ala965=
XM_011522481.3:c.2586_2638delinsAGTAGGTGGGCAGCAGACGCAGGCAGCCCTGCGTGGCGGGATCTTCGGGCTCC	XP_011520783.1:p.Ala862=
XM_017023212.1:c.2760_2812delinsAGTAGGTGGGCAGCAGACGCAGGCAGCCCTGCGTGGCGGGATCTTCGGGCTCC	XP_016878701.1:p.Ala920=
XM_017023214.1:c.2928_2980delinsAGTAGGTGGGCAGCAGACGCAGGCAGCCCTGCGTGGCGGGATCTTCGGGCTCC	XP_016878703.1:p.Ala976=
XM_024450261.1:c.2964_3016delinsAGTAGGTGGGCAGCAGACGCAGGCAGCCCTGCGTGGCGGGATCTTCGGGCTCC	XP_024306029.1:p.Ala988=
XR_932836.2:n.3109_3161delinsAGTAGGTGGGCAGCAGACGCAGGCAGCCCTGCGTGGCGGGATCTTCGGGCTCC
XR_932837.3:n.3109_3161delinsAGTAGGTGGGCAGCAGACGCAGGCAGCCCTGCGTGGCGGGATCTTCGGGCTCC
XR_932838.3:n.3109_3161delinsAGTAGGTGGGCAGCAGACGCAGGCAGCCCTGCGTGGCGGGATCTTCGGGCTCC
NM_001171.6:c.2928_2980delinsAGTAGGTGGGCAGCAGACGCAGGCAGCCCTGCGTGGCGGGATCTTCGGGCTCC MANE Select	NP_001162.5:p.Ala976=